shsGDP - Period 11 - best diasease

BEST DISEASE:
It is an eye disease that is slowly progressive and usually starts becoming an issue when someone is a child or young adult

mainly a loss of central vision
the amount of vision loss varies
usually affects both eyes, but can exist in only 1 eye
has multiple stages:
Stage 0. Normal macula. Abnormal EOG
Stage 1. Retinal pigment epithelium (RPE) disruption in the macular region.
Stage 2. Circular, well-circumscribed, yellow-opaque, homogenous yolk-like macular lesion.
Stage 2a. Vitelliform lesion contents become less homogenous to develop a "scrambled-egg" appearance. Fluorescein angiogram (FA) shows partial blockage of fluorescence with a non-homogenous hyperfluorescence.
Stage 3. Pseudohypopyon phase. The lesion develops a fluid level of a yellow-colored vitelline substance. FA shows inferior hypofluorescence from the blockage by the vitelline material, along with superior hyperfluorescent defects.
Stage 4a. Orange-red lesion with atrophic RPE and visibility of the choroid. FA shows hyperfluorescence without leakage.
Stage 4b. Fibrous scarring of the macula. FA shows hyperfluorescence without leakage.
Stage 4c. Choroidal neovascularization with new vessels on the fibrous scar or appearance of subretinal hemorrhage. FA shows hyperfluorescence as a result of neovascularization and leakage.

SYMPTOMS:

TESTS USED TO IDENTIFY:

electro-oculogram (EOG) which measures the resting potential of the retina
electroretinogram (ERG). The ERG measures electrical responses of the rods and cones in the retina as well as ganglion cells
optical coherence tomography (OCT). This test is used to create a cross section view of the retina. OCT findings change depending on the stage of the disease.

TREATMENT:

INHERITANCE PATTERN: